ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217142
Gene: GFAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002046.1:p.Asp417Ala
NM_002055.5:c.1250A>C